Linked Data
gnomAD v4:
X-25004616-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25004616T>G , CM000685.2:g.25004616T>G | GRCh38 |
| NC_000023.10:g.25022733T>G , CM000685.1:g.25022733T>G | GRCh37 |
| NC_000023.9:g.24932654T>G | NCBI36 |
| NG_008281.1:g.16333A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.*54A>C MANE Select | ENSP00000368332.4:n.*54A>C | |
| ENST00000379044.4:c.*54A>C | ENSP00000368332.4:n.*54A>C | |
| NM_139058.2:c.*54A>C | NP_620689.1:n.*54A>C | |
| NM_139058.3:c.*54A>C MANE Select | NP_620689.1:n.*54A>C |